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Familial hypercholesterolemia

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What are the signs and symptoms of familial hypercholesterolemia? What genes cause this condition?

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What is familial hypercholesterolemia?

Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.[1]
Last updated: 6/18/2015

What are the signs and symptoms of familial hypercholesterolemia? 

Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include:[2]

Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s and 60s.[3]

Individuals with the rare, autosomal recessive form of FH (also called homozygous FH) develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy.[3] In individuals with this form of FH, heart attacks and/or death may occur before age 30, sometimes in young children if they are not aggressively treated.[3][2]

Last updated: 10/22/2013

What genes are related to familial hypercholesterolemia?

Familial hypercholesterolemia is caused by mutations in the LDLR gene which is located on chromosome 19. The defect makes the body unable to remove LDL cholesterol from the bloodstream. This results in consistently high levels of LDL in the blood, which leads to atherosclerosis at an early age as well as deposits of cholesterol in other tissues like the skin and tendons.[4][1] 

Last updated: 10/22/2013

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  1. Hypercholesterolemia. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=hypercholesterolemia. Accessed 10/22/2013.
  2. Familial Hypercholesterolemia. NORD. July 25, 2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/811/viewAbstract. Accessed 10/22/2013.
  3. Learning About Familial Hypercholesterolemia. National Human Genome Research Institute (NHGRI). December 26, 2013; http://www.genome.gov/25520184.
  4. Dugdale DC, Zieve D. Familial hypercholesterolemia. MedlinePlus. 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm. Accessed 10/22/2013.